AutismKB 2.0

Annotation Detail for PCK2


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Basic Information Top
Gene Symbol:PCK2 ( PEPCK,PEPCK-M,PEPCK2 )
Gene Full Name: phosphoenolpyruvate carboxykinase 2 (mitochondrial)
Band: 14q11.2-q12
Quick LinksEntrez ID:5106; OMIM: 261650; Uniprot ID:PCKGM_HUMAN; ENSEMBL ID: ENSG00000100889; HGNC ID: 8725
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
593Phosphothreonine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001018073
  • Location:chr14 23633322-23639604
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 23633211 23633760 549 0
H3ac HepG2E 23633694 23635099 1405 0
NFkBII GM12878GSE19485 23633731 23635341 1610 0
PHF8 HeLaGSE20725 23633068 23634163 1095 0
Pol2 GM12878GSE19551 23632711 23635132 2421 0
Rb GrowingGSE19898 23633225 23633482 257 0
USF1 HepG2E 23633796 23635241 1445 0
USF1 HepG2E 23635627 23635939 312 0
USF2 HepG2E 23633859 23635174 1315 0
hScc1 BcellGSE12603 23633162 23633796 634 0
p130 SenescentGSE19898 23633244 23633438 194 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-143 hsa-mir-143 5 20064147
hsa-miR-143* hsa-mir-143 5 20064147
hsa-miR-29a hsa-mir-29a 7 20943204
hsa-miR-29a* hsa-mir-29a 7 20943204
No data
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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